NM_001077365.2:c.2113_2114del

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HGVS Expressions

  • NG_008896.2:g.25140_25141del
  • NM_001077365.2:c.2113_2114del
  • NP_001070833.1:p.Ser705AlafsTer3
  • NC_000009.12:g.131523041_131523042del

Associated Genes

Protein O-Mannosyltransferase 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

587777819

Clinvar

3252

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236670.3Saudi Arabia2PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1Shaheen et al. 2017 Subject had 4 older siblings that also s...
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Contributors

  • Sayeeda Hana: 13.09.2022

Edit History

  • Sayeeda Hana: 13.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.